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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
The LARGE gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acetylglucosaminyltransferase-like 1A; Glycosyltransferase-like protein; LARGE xylosyl- and glucuronyltransferase 1; like-acetylglucosaminyltransferase; Xylosyl- and glucuronyltransferase LARGE1
基因别名: KIAA0609; LARGE; LARGE1
Entrez Gene ID: (Human) 9215